Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Mannose-P-dolichol utilization defect 1
MPDU1 (17p13.1)


* Congenital disorder of glycosylation type 1 - CDG1F (2.36)
Maspardin
SPG21 (15q21-q22)


* Spastic paraplegia 20 - SPG21 (15.31)
Matrin 3
MATR3 (5q31)


* Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.64)
* Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.64)
Membrane metallo-endopeptidase
MME (3q25.2)


* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.87)
* Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.87)
MET protooncogene
MET (7q31.2)


* Arthrogryposis and muscular dysplasia - (16.23)
Methionyl-tRNA synthetase
MARS (12q13.3)


* Charcot-Marie-Tooth 2 - (14.62)
Methionyl-tRNA synthetase 2, mitochondrial(M)
MARS2 (2q33-34)


* autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
Microtubule associated protein Tau
MAPT (17q21.31 )


* Lower motor neuron disease with respiratory failure related to MAPT - (12.97)
Microtubule-actin cross-linking factor 1
MACF1 (1p34.3)


* Spectraplakinopathy - (16.79)
Mindbomb homolog 1 (drosophila)
MIB1 (18q11.2)


* Left ventricular noncompaction 7 - LVNC7 (10.98)
Minichromosome maintenance 3-associated protein
MCM3AP (21q22.3)


* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.98)
Misato homolog 1 (Drosophila)(M)
MSTO1 (1q22)


* Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.52, 13.94, 16.70)
Mitochondrial carrier; adenine nucleotide translocator(M)
SLC25A4 (4q35)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.34, 16.54, 16.55)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.34, 16.54, 16.55)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.34, 16.54, 16.55)
Mitochondrial DNA polymerase, accessory subunit(M)
POLG2 (17q24.1)


* progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.36)
Mitochondrial genome maintenance exonuclease 1(M)
MGME1 (20p11.23)


* Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.53)
Mitochondrial poly(A) polymerase(M)
MTPAP (10p12.1)


* Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
Mitochondrial ribosomal protein L3(M)
MRPL3 (3q21-q23)


* Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
Mitochondrial ribosomal protein L44(M)
MRPL44 (2q36.1)


* Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
Mitochondrial ribosomal protein S25(M)
MRPS25 (3p25.1)


* Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.69)
Mitochondrial tRNA translation optimization 1(M)
MTO1 (6q13)


* Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
Mitofusin 2(M)
MFN2 (1p36.22)


* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.47, 14.70, 14.75)
* Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.47, 14.70, 14.75)
* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.47, 14.70, 14.75)
Mitogen-activated protein kinase kinase 20
MAP3K20 (2q31.1)


* Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.20)
MORC family CW-type zinc finger 2
MORC2 (2q12.2)


* Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.66)
MpV17 mitochondrial inner membrane protein(M)
MPV17 (2p23.3)


* Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.78)
MRE11 meiotic recombination 11 homolog A
MRE11A (11q21)


* ataxia telangiectasia-like disorder - ATLD (13.88)
Multiple EGF-like-domains 10
MEGF10 (5q23.2)


* Recessive congenital myopathy with minicores - (3.33, 3.34)
* Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.33, 3.34)
Muscle-related coiled-coil protein
MURC (9q31.1)


* Dilated cardiomyopathy related to MURC - (10.83)
Muscle, skeletal, receptor tyrosine kinase
MUSK (9q31.3-q32)


* Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.15, 16.26)
* Congenital myasthenic syndrome related to MuSK - CMS1B (11.15, 16.26)
Myelin associated glycoprotein
MAG (19q13.12)


* Spastic paraplegia 75, autosomal recessive - SPG75 (15.63)
Myelin protein zero
MPZ (1q22)


* Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
Myoglobin
MB (22q12.3)

* Myopathy with characteristic sarcoplasmic inclusions - (5.36)
Myomaker
MYMK (9q34.2)

* Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.51)
Myopalladin
MYPN (10q21.1)


* Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (3.11, 10.23, 10.72, 10.88)
* Nemaline myopathy - NEM11 (3.11, 10.23, 10.72, 10.88)
Myosin heavy chain 6
MYH6 (14q12)


* Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.175, 10.66)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.175, 10.66)
* Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.175, 10.66)
* Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.175, 10.66)
Myosin heavy chain, 8, skeletal muscle, perinatal
MYH8 (17p13)


* Myosin, heavy chain, perinatal - MYH8 (16.19)
Myosin IXA
MYO9A (15q23)


* Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.30)
Myosin light chain 2
MYL2 (12q23-q24.3)


* Cardiomyopathy, hypertrophic, 10 - CMH10 (3.19, 10.9)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.19, 10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (3.19, 10.9)
Myosin light chain 3
MYL3 (3p21.3-p21.2)


* Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
Myosin light chain kinase 2
MYLK2 (20q13.31)


* cardiomyopathy, familial hypertrophic - CMH (10.15)
Myosin XVIIIB
MYO18B (22q12.1)


* Nemaline Myopathy with Cardiomyopathy - (3.12)
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.12)
Myosin-binding proteinC, slow type
MYBPC1 (12q23.2)


* Arthrogryposis, distal, type 1B - DA1B (12.79, 16.10)
* Lethal Congenital Contracture Syndrome 4 - LCCS4 (12.79, 16.10)
Myosin, heavy chain 14, non muscle
MYH14 (19q13.33)


* Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.96)
Myosin, heavy polypeptide 2, skeletal muscle
MYH2 (17p13.1)


* Myopathy congenital, with fiber-type disproportion - CFTD (3.37)
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.37)
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.37)
Myosin, heavy polypeptide 7, cardiac muscle, beta
MYH7 (14q12)


* Myopathy, distal 1 - MPD1 (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* Myosin storage myopathy - (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* Cardiomyopathy, dilated, 1S - CMD1S (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* Left ventricular noncompaction 5 - LVNC5 (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic
MYL4 (17q21.32)


* ATFB18 - Atrial fibrillation (10.162)
Myosin, light polypeptide 1, alkali, skeletal fast
MYL1 (2q34)


* Myopathy congenital with fast twitch (type II) fiber atrophy - MYOFTA (3.55)
Myosine, heavy chain 3, skeletal muscle, embryonic
MYH3 (17p13)


* Arthrogryposis, distal, type 2A - DA2A (16.11, 16.14)
* Arthrogryposis, distal, type 2B - DA2B (16.11, 16.14)
Myostatin
MSTN (2q32.2)


* Muscle hypertrophy - MSLHP (5.22)
Myotilin
MYOT (5q31)


* Left ventricular hypertrabeculation/non compaction - (1.20, 4.10, 5.3, 5.4)
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.20, 4.10, 5.3, 5.4, 5.4)
* Spheroid body myopathy - (1.20, 4.10, 5.3, 5.4, 5.4)
* Myofibrillar myopathy, myotilin related - MFM3 (1.20, 4.10, 5.3, 5.4, 5.4)
Myotonic dystrophy protein kinase
DMPK (19q13.3)


* Steinert disease - DM1 (6.1)
* Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)
Myotubularin
MTM1 (Xq28)


* Myotubular myopathy, X-linked - MTM1 (3.21)
Myotubularin-related protein 2
MTMR2 (11q22)


* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.22)
Myozenin 2, or calsarcin 1, a Z disk protein
MYOZ2 (4q26)


* Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)
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